References
- Higashi H, Barendregt JJ, Kassebaum NJ, Weiser TG, Bickler SW, Vos T. The burden of selected congenital anomalies amenable to surgery in low and middle-income regions: Cleft lip and palate, congenital heart anomalies and neural tube defects. Arch Dis Child. 2015; 100(3): 233-238.
- Ware SM, Jefferies JL. New genetic insights into congenital heart disease. J Clin Exp Cardiol. 2012; S8: 003.
- Xin C, Wang C, Wang Y, Zhao J, Wang L, Li R, et al. Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: A case report and systematic literature review. BMC Med Genet. 2018; 19(1): 31.
- Adam MP, Banka S, Bjomsson HT, Bodamer O, Chudley AE, Harris J, et al. ; Kabuki Syndrome Medical Advisory Board. Kabuki syndrome: International consensus diagnostic criteria. J Med Genet. 2019; 56(2): 89-95.
- Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, et al. Congenital heart defects in molecularly proven Kabuki syndrome patients. Am J Med Genet A. 2017; 173(11): 2912-2922.
- Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, et al. Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2. Hum Mutat. 2016; 37(9): 847-864.
- Bögershausen N, Tsai I-C, Pohl E, Kiper PÖS, Beleggia F, Percin EF, et al. RAP 1-mediated MEK/ERK pathway defects in Kabuki syndrome. J Clin Invest. 2015; 125(9): 3585-3599.
- Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, et al. GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. Hum Mutat. 2015; 36(10): 1009-1014.
- Adam MP. Insights into the molecular genetics of Kabuki syndrome. Add Genomics Genet. 2015; 5: 121-129.
- Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, et al. Kabuki syndrome: Clinical and molecular diagnosis in the first year of life. Arch Dis Child. 2015; 100(2): 158-164.
- Schutte BC, Saal HM, Goudy S, Leslie E, Adam MP, Ardinger HH, et al., Editors. IRF6-Related disorders. GeneReviews® [Internet] (1993-2019). Seattle, WA, USA: University of Washington, Seattle, WA, USA; 1993-2020. https://www.ncbi.nhn.nih.gov/books/NBK1407/ accessed November 7 2019).
- Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5): 405-424.
- Makrythanasis P, van Bon B W, Steehouwer M, Rodruez-Santiago B, Simpson M, Dias P, et al. MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study. Clin Genet. 2013; 84(6): 539-545.
- Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr. 1981; 99(4): 565-569.
- Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. A new malformation syndrome of long palpebral Assures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr. 1981; 99(4): 570-573.
- Bögershausen N, Wollnikb B. Unmasking Kabuki syndrome. Clin Genet. 2013; 83(3): 201-211.
- Courcet JB, Faivre L, Michot C, Burguet A, Perez-Martin S, Alix E, et al. Clinical and molecular spectrum of renal malformations in Kabuki syndrome. J Pediatr. 2013; 163(3): 742-746.
- Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al. Exome sequencing identifies MLL2 mutations as a cause of kabuki syndrome. Nat Genet. 2010; 42(9): 790-793.
- Froimchuk E, Jang Y, Ge K. Histone H3 lysine 4 methyltransferase KMT2D. Gene. 2017; 627: 337-342.
- Ansari KI, Hussain I, Shrestha B, Kasiri S, Mandal SS. HOXC6 Is transcriptionally regulated via coordination of MLL histone methylase and estrogen receptor in an estrogen environment. J Mol Biol. 2011; 411(2): 334-349.
- Garcia-Gasca A, Spyropoulos DD. Differential mammary morphogenesis along the anteroposterior axis in Hoxc6 gene targeted mice. Dev Dyn. 2000; 219(2): 261-276.
- Moon JE, Lee SJ, Ko CW. A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: A case report. BMC Med Genet. 2018; 19(1): 102.
- Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, et al. Kabuki syndrome genes KMT2D and KDM6A: Functional analyses demonstrate critical roles in craniofacial, heart and brain development. Hum Mol Genet. 2015; 24(15): 4443-4453.
- Schott DA, Gerver WJM, Stumpel CTRM. Growth hormone stimulation tests in children with Kabuki syndrome. Clinical Trial. Horm Res Paediatr. 2016; 86(5): 319-324.
- Schott DA, Gerver WJM, Stumpel CTRM. Growth hormone therapy in children with Kabuki syndrome: 1-year treatment results. Horm Res Paediatr. 2017; 88(3-4): 258-264.
- Lehman N, Mazery AC, Visier A, Baumann C, Lachesnais D, Capri Y, et al. Molecular, clinical and neu-ropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Clin Genet. 2017; 92(3): 298-305.